Applications

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application

Abreviews

Notes

WB

Application notesWB: Use at a concentration of 1-5 µg/ml.

This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.

Not yet tested in other applications.Optimal dilutions/concentrations should be determined by the end user.

Target

FunctionMay act as a GTPase regulator. Controls survival and growth of spinal motoneurons.

Involvement in diseaseDefects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2) [MIM:205100]. ALS2 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms.Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS) [MIM:606353]. JPLS is a neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons of the motor cortex while the lower neurons are unaffected.Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]. IAHSP is characterized by progressive spasticity and weakness of limbs.